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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.

Abstract：

:Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify a disruptive Alu insertion and a nonsense variant (p.Arg1933*) in the ciliary gene RP1, neither of which are rare alleles in Japan. p.Arg1933* is almost polymorphic (frequency = 0.6%, amongst 12,000 individuals), does not cause disease in homozygosis or heterozygosis, and yet is significantly enriched in HRD patients (frequency = 2.1%, i.e., a 3.5-fold enrichment; p-value = 9.2 × 10-5). Familial co-segregation and association analyses show that p.Arg1933* can act as a Mendelian mutation in trans with the Alu insertion, but might also associate with disease in combination with two alleles in the EYS gene in a non-Mendelian pattern of heredity. Our results suggest that rare conditions such as HRDs can be paradoxically determined by relatively common variants, following a quasi-Mendelian model linking monogenic and complex inheritance.

journal_name

Nat Commun

journal_title

Nature communications

authors

Nikopoulos K,Cisarova K,Quinodoz M,Koskiniemi-Kuendig H,Miyake N,Farinelli P,Rehman AU,Khan MI,Prunotto A,Akiyama M,Kamatani Y,Terao C,Miya F,Ikeda Y,Ueno S,Fuse N,Murakami A,Wada Y,Terasaki H,Sonoda KH,Ishibashi

doi

10.1038/s41467-019-10746-4

subject

Has Abstract

pub_date

2019-06-28 00:00:00

pages

2884

issue

1

issn

2041-1723

pii

10.1038/s41467-019-10746-4

journal_volume

10

pub_type

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